Amino acid replacement: W?term.
The single transition occurs near the 3' end of exonI/IIa. This change would cause premature termination and eliminate expression of isoforms containing the relatively unconserved amino acid sequence encoded by exon I/IIa.
Nucleotide substitution: G?A.
G11975760A
G?A
W348term | cac-PA; W348term | cac-PB; W348term | cac-PE; W348term | cac-PH; W348term | cac-PI; W348term | cac-PL; W348term | cac-PM; W454term | cac-PN; W348term | cac-PO; W348term | cac-PP
W?term
TGG to TAG; mutation falls within one of the alternative ninth cac exons and therefore only effects some protein isoforms.
cacH18 mutant males, but not females, show a more severe age-dependent decline in locomotion, as compared to controls; females, but not males, also show a significantly decreased lifespan, as compared to controls.
cacH18 mutants show decreased cardiac function, as shown by the significant decrease in heart rate, but not in fractional shortening, end diastolic diameter, end systolic diameter or arrhythmic index, as compared to controls.
Phenotype restricted to the visual system. General characteristics of mutant phenotype: Song pulse - wild-type; Optomotor test - mutant; CC-phototaxis - mutant; Y-phototaxis - mutant; ERG transients - mutant; ERG LCRP amplitude - mutant; ERG LCRP kinetics - wild-type; ERG Rebound - slightly affected; ERG refractory wandering - wild-type.
cacH18 is a suppressor of abnormal neurophysiology phenotype of Ihf03355
Extensive phenogenetic analysis of allelic combinations reveals a phenotypic series for visually mediated behaviors and genetically separable ERG defects and courtship song defects.
Heisenberg.